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Molecular screening of Smith–Lemli–Opitz syndrome in pregnant women from the Czech Republic

✍ Scribed by I. Blahakova; E. Makaturova; L. Kotrbova; M. Soukupova; J. Lastuvkova; L. Kozak


Book ID
106374293
Publisher
Springer
Year
2007
Tongue
English
Weight
260 KB
Volume
30
Category
Article
ISSN
0141-8955

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✍ Honda, Akira; Batta, Ashok K.; Salen, Gerald; Tint, G. Stephen; Chen, Thomas S.; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB 👁 2 views

The Smith-Lemli-Opitz syndrome (SLOS) is a common condition caused by deficiency of 7-dehydrocholesterol ⌬ 7 -reductase. The syndrome can usually be diagnosed by demonstrating markedly increased plasma concentrations of the cholesterol precursor, 7-dehydrocholesterol. We describe a simple and rapid